Zobrazeno 1 - 10 of 77 pro vyhledávání: '"Bassett, JH"'
1
An atlas of genetic influences on osteoporosis in humans and mice
Autor: Morris, John A, Kemp, John P, Youlten, Scott E, Laurent, Laetitia, Logan, John G, Chai, Ryan C, Vulpescu, Nicholas A, Forgetta, Vincenzo, Kleinman, Aaron, Mohanty, Sindhu T, Sergio, C Marcelo, Quinn, Julian, Nguyen-Yamamoto, Loan, Luco, Aimee-Lee, Vijay, Jinchu, Simon, Marie-Michelle, Pramatarova, Albena, Medina-Gomez, Carolina, Trajanoska, Katerina, Ghirardello, Elena J, Butterfield, Natalie C, Curry, Katharine F, Leitch, Victoria D, Sparkes, Penny C, Adoum, Anne-Tounsia, Mannan, Naila S, Komla-Ebri, Davide SK, Pollard, Andrea S, Dewhurst, Hannah F, Hassall, Thomas AD, Beltejar, Michael-John G, 23andMe Research Team, Adams, Douglas J, Vaillancourt, Suzanne M, Kaptoge, Stephen, Baldock, Paul, Cooper, Cyrus, Reeve, Jonathan, Ntzani, Evangelia E, Evangelou, Evangelos, Ohlsson, Claes, Karasik, David, Rivadeneira, Fernando, Kiel, Douglas P, Tobias, Jonathan H, Gregson, Celia L, Harvey, Nicholas C, Grundberg, Elin, Goltzman, David, Adams, David J, Lelliott, Christopher J, Hinds, David A, Ackert-Bicknell, Cheryl L, Hsu, Yi-Hsiang, Maurano, Matthew T, Croucher, Peter I, Williams, Graham R, Bassett, JH Duncan, Evans, David M, Richards, J Brent
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound in 426,824 individuals, identifying 518 genome-wide significant
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00614c97b70ecd1e236e5d33cf32d3b1
https://www.repository.cam.ac.uk/handle/1810/294653
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3
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
Autor: Pannett, AA, Kennedy, AM, Turner, JJ, Forbes, SA, Cavaco, BM, Bassett, JH, Cianferotti, L, Harding, B, Shine, B, Flinter, F, Maidment, CG, Trembath, R, Thakker, RV
BACKGROUND: Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterized by uniglandular or multiglandular parathyroid tumours that occur in the absence of other endocrine tumours. The disorder may represent either an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6fbbdddc18fbba8fb6a66b255c9c44fc
https://ora.ox.ac.uk/objects/uuid:0d15027a-b211-4015-a9da-17df9ce4288b
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4
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism
Autor: Bassett, JH, O'Halloran, DJ, Williams, GR, Beardwell, CG, Shalet, SM, Thakker, RV
OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita critical region on the X chromosome gene 1), which encodes a novel orphan nuclear receptor, have been identified in patients with X-linked adrenal hypop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7ac82f8f19a57b8c2609d1b17180f0d1
https://ora.ox.ac.uk/objects/uuid:93ecb636-021b-467a-a0dd-84a784d734b1
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10
A molecular quantitative trait locus map for osteoarthritis
Autor: Steinberg, Julia, Southam, Lorraine, Roumeliotis, Theodoros I, Clark, Matthew J, Jayasuriya, Raveen L, Swift, Diane, Shah, Karan M, Butterfield, Natalie C, Brooks, Roger A, McCaskie, Andrew W, Bassett, JH Duncan, Williams, Graham R, Choudhary, Jyoti S, Wilkinson, J Mark, Zeggini, Eleftheria
Osteoarthritis causes pain and functional disability for over 500 million people worldwide. To develop disease-stratifying tools and modifying therapies, we need a better understanding of the molecular basis of the disease in relevant tissue and cell
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1072cecc4d7c1873fe27b87a66dcf881
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